22 documents found, page 1 of 3
Regulation of human ZNF687, a gene associated with Paget's disease of bone
Varela, Débora; Varela, Tatiana; Conceição, Natércia; Cancela, M. LeonorMutations in Zinc finger 687 (ZNF687) were associated with Paget's disease of bone (PDB), a disease charac-terized by increased bone resorption and excessive bone formation. It was suggested that ZNF687 plays a role in bone differentiation and development. However, the mechanisms involved in ZNF687 regulation remain un-known. This study aimed to obtain novel knowledge regarding ZNF687 transcriptional and epigen...
Zebrafish models to study ectopic calcification and calcium-associated pathologies
Santos, João; Laizé, Vincent; J. Gavaia, Paulo; Conceição, Natércia; Leonor Cancela, M.Ectopic calcification refers to the pathological accumulation of calcium ions in soft tissues and is often the result of a dysregulated action or disrupted function of proteins involved in extracellular matrix mineralization. While the mouse has traditionally been the go-to model organism for the study of pathologies associated with abnormal calcium deposition, many mouse mutants often have exacerbated phenotyp...
mef2ca and mef2cb Double mutant Zebrafish show altered craniofacial phenotype a...
Adrião, Andreia; Mariano, Sara; Mariano, José; Gavaia, Paulo; Cancela, M. Leonor; Vitorino, Marta; Conceição, NatérciaThe transcription factor MEF2C is crucial in neuronal, cardiac, bone and cartilage molecular processes, as well as for craniofacial development. MEF2C was associated with the human disease MRD20, whose patients show abnormal neuronal and craniofacial development. Zebrafish <i>mef2ca</i>;<i>mef2cb</i> double mutants were analysed for abnormalities in craniofacial and behaviour development through phenotypic anal...
Lab-it is taking molecular genetics to school
F. Simao, Marcio; Conceição, Natércia; Imaginário, S.; Amaro, João; Leonor Cancela, M.The Molecular Genetics Mobile Lab or “Laboratório itinerante de Genética Molecular” (Lab-it) was funded in 2008 by Leonor Cancela to promote the learning of molecular genetics which had been introduced at that time into high school biology programms. The project aimed to introduce hands-on laboratory activities in molecular genetics to complement the theoretical concepts taught in school. These included the dev...
Cdkl5 mutant zebrafish shows skeletal and neuronal alterations mimicking human ...
Varela, Tatiana; Varela, Débora; Martins, Gil; Conceição, Natércia; Cancela, M. LeonorCDKL5 deficiency disorder (CDD) is a rare neurodevelopmental condition characterized primarily by seizures and impairment of cognitive and motor skills. Additional phenotypes include microcephaly, dysmorphic facial features, and scoliosis. Mutations in cyclin-dependent kinase-like 5 (CDKL5) gene, encoding a kinase essential for normal brain development and function, are responsible for CDD. Zebrafish is an acce...
Identification of a novel mutation in MEF2C gene in an atypical patient with fr...
Adrião, Andreia; Santana, Isabel; Ribeiro, Carolina; Cancela, M. Leonor; Conceição, Natércia; Grazina, ManuelaThe MEF2C gene encodes a transcription factor known to play a crucial role in molecular pathways affecting neuronal development. MEF2C mutations were described as a genetic cause of developmental disease (MRD20), and several reports sustain its involvement in dementia-related conditions, such as Alzheimer's disease and amyotrophic lateral sclerosis. These pathologies and frontotemporal degeneration (FTLD) are t...
Transcriptional regulation of human DUSP4 gene by cancer‐related transcription ...
Varela, Tatiana; Conceição, Natércia; Laizé, Vincent; Cancela, M. LeonorDual specificity phosphatase 4 (DUSP4), a member of the dual specificity phosphatase family, is responsible for the dephosphorylation and inactivation of ERK, JNK and p38, which are mitogen-activated protein kinases involved in cell proliferation, differentiation and apoptosis, but also in inflammation processes. Given its importance for cellular signalling, DUSP4 is subjected to a tight regulation and there is...
Functional analysis of two novel TBX5 variants present in individuals with Holt...
Varela, Debora; Varela, Tatiana; Conceição, Natércia; Ferreira, Angela; Marques, Nuno; Silva, Ana Paula; Azevedo, Pedro; Pereira, Salome; Camacho, AnaHolt-Oram syndrome (HOS) is a rare disorder characterized by cardiac and upper-limb defects. Pathogenic variants in TBX5-a gene encoding a transcription factor important for heart and skeletal development-are the only known cause of HOS. Here, we present the identification and functional analysis of two novel TBX5 pathogenic variants found in two individuals with HOS presenting distinct phenotypes. The individu...
Transcriptional regulation of human T-box 5 gene (TBX5) by bone- and cardiac-re...
Varela, Débora; Conceição, Natércia; Cancela, M. LeonorT-box 5 (TBX5) protein belongs to the T-box family whose members play a crucial role in cell-type specification, morphogenesis and organogenesis. TBX5 is a transcription factor important for cardiac development and upper limbs formation and its haploinsufficiency causes Holt-Oram syndrome (HOS). An increase in TBX5 dosage also leads to HOS, suggesting that TBX5 is a dose-sensitive transcription factor that need...
Keutel Syndrome, a review of 50 years of literature
Cancela, M. Leonor; Laizé, Vincent; Conceição, Natércia; Kempf, Hervé; Murshed, MonzurKeutel syndrome (KS) is a rare autosomal recessive genetic disorder that was first identified in the beginning of the 1970s and nearly 30 years later attributed to loss-of-function mutations in the gene coding for the matrix Gla protein (MGP). Patients with KS are usually diagnosed during childhood (early onset of the disease), and the major traits include abnormal calcification of cartilaginous tissues resulti...